Supporting Families from the Start
If you are planning a family, currently pregnant, or have concerns about reproductive risks, a genetic consultation can help you understand your options and support your journey. At Schell Genetics, we provide expert advice for individuals, couples, and families who wish to explore genetic questions related to fertility, pregnancy, and inherited conditions.
Reproductive Genetic Consultations
Would you like to understand more?
Reproductive Genetics is a broad and essential field that includes preconception and prenatal genetic consultation, Assisted Reproductive Technologies (ART), and preimplantation genetic diagnosis (PGD). These services can help individuals and couples understand whether they are at risk of passing on a genetic condition to their children and what reproductive options are available.
Genetic testing in reproductive medicine serves several important purposes. It can identify the underlying causes of infertility or recurrent miscarriages, detect genetic conditions that might be passed to children, and reveal the reasons behind abnormalities in foetal development. It also supports and enhances the use of ART, including IVF and preimplantation testing.
At Schell Genetics, we take a comprehensive approach by evaluating both partners in a couple. A joint medical and genetic history is essential in cases of unexplained infertility, repeated pregnancy loss, or concerns raised during prenatal testing. If a diagnosis is suspected, targeted genetic testing can confirm it and guide more precise medical care and support.
Screening before conception can also help couples understand their reproductive risks. Carrier screening, preimplantation testing, and prenatal diagnosis all play a role in assessing and managing the risk of passing on inherited conditions.
Two main options are available for couples at risk of transmitting a genetic disorder: preimplantation genetic testing (PGT), performed during IVF, and prenatal diagnosis (PND), conducted during pregnancy. Both approaches aim to provide families with clarity and choices.
Is Infertility Genetic?
Infertility affects around 10 to 15 per cent of couples. In many cases, genetics plays a contributing role. Both male and female factors each account for roughly a third of cases, while the remaining third is often due to a combination of causes or remains unexplained.
While not all infertility is genetic, some inherited conditions can directly impact reproductive health. A consultation with Dr Chayim Schell-Apacik can help uncover whether a genetic cause may be contributing to your fertility challenges and guide appropriate testing and treatment options.
Genetic Disorders That May Affect Female Fertility
Genetic causes account for an estimated 10 percent of female infertility. These include:
Turner Syndrome: A missing or altered X chromosome can result in early ovarian insufficiency.
Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): Carriers of the Fragile X gene may experience early menopause and increased risk of having children with intellectual disabilities.
Congenital Adrenal Hyperplasia (CAH): Affects hormone levels and menstrual cycles.
Chromosomal rearrangements: Increase the risk of miscarriage or developmental issues in offspring.
Genetic Disorders That May Affect Male Fertility
Genetics is involved in approximately 15 percent of male infertility cases. Key conditions include:
Klinefelter Syndrome (XXY): Results in reduced testosterone and sperm production.
Kallmann Syndrome: Affects hormone production essential for sexual development.
Cystic Fibrosis (CF): Some carriers may have absent vas deferens, leading to infertility.
Y Chromosome Microdeletions: Missing genetic regions involved in sperm production.
Chromosomal rearrangements: Can lead to fertility problems or increase the risk of miscarriage.
Conditions and Concerns We Commonly Address
Carrier screening for inherited conditions
Chromosomal conditions such as Down syndrome
Recurrent miscarriage or stillbirth
Genetic risks related to consanguinity
Prenatal test results (NIPT, CVS, amniocentesis)
Inherited fertility disorders
Pre-implantation genetic testing (PGT) for IVF
Why Consider Genetic Testing?
Genetic testing can:
Clarify reproductive risks
Identify causes of infertility or miscarriage
Support choices around pregnancy and fertility treatment
Guide planning for a healthy pregnancy
Help determine whether family members should also be tested
Not every situation requires testing, but expert guidance can help you make confident, informed decisions. Dr Chayim Schell-Apacik offers honest, compassionate advice tailored to your individual circumstances.
Book your private reproductive genetics consultation today.